Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000376395 [[86274877, 86276854], [86278789, 86278958], [86279944, 86280060], [86281264, 86281348], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86323118]] [[86276701, 86276854], [86278789, 86278958], [86279944, 86280060], [86281264, 86281348], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86322594]]
ENST00000533705 [[86274885, 86276854], [86278789, 86278958], [86279944, 86280060], [86281264, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86300968]] None
ENST00000257468 [[86276343, 86276854], [86278789, 86278958], [86279944, 86280060], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86322849]] [[86276701, 86276854], [86278789, 86278958], [86279944, 86280060], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86322594]]
ENST00000526134 [[86276816, 86276854], [86278789, 86278958], [86279944, 86280060], [86281264, 86281309], [86284099, 86284206]] [[86276816, 86276854], [86278789, 86278958], [86279944, 86280060], [86281264, 86281309], [86284099, 86284206]]
ENST00000527373 [[86276825, 86276854], [86278789, 86278958], [86279944, 86280308]] None
ENST00000529923 [[86292666, 86292876], [86293355, 86293514], [86322414, 86322516]] [[86292666, 86292876], [86293355, 86293514], [86322414, 86322516]]
NM_013438 [[86274877, 86276854], [86278789, 86278958], [86279944, 86280060], [86281264, 86281348], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86323168]] [[86276701, 86276854], [86278789, 86278958], [86279944, 86280060], [86281264, 86281348], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86322594]]
NM_053067 [[86274877, 86276854], [86278789, 86278958], [86279944, 86280060], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86323168]] [[86276701, 86276854], [86278789, 86278958], [86279944, 86280060], [86284099, 86284242], [86292641, 86292876], [86293355, 86293514], [86294689, 86294952], [86297865, 86297981], [86300918, 86301070], [86322414, 86322594]]
Promoter
Chrom Start End Description
chr9 86322592 86322632 CAGE_peak_2_at_UBQLN1_5end
chr9 86322808 86322826 CAGE_peak_3_at_UBQLN1_5end
chr9 86322831 86322906 CAGE_peak_1_at_UBQLN1_5end
chr9 86322912 86322923 CAGE_peak_4_at_UBQLN1_5end
chr9 86323008 86323021 CAGE_peak_7_at_UBQLN1_5end
chr9 86323128 86323164 CAGE_peak_5_at_UBQLN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I083508 83508146 83508295 0.64 [{'connected_gene': 'KIF27', 'score': 4.71}, {'connected_gene': 'HNRNPK', 'score': 1.74}, {'connected_gene': 'UBQLN1', 'score': 1.26}, {'connected_gene': 'PIR58953', 'score': 0.77}, {'connected_gene': 'GC09M083513', 'score': 0.77}, {'connected_gene': 'FRMD3', 'score': 0.29}, {'connected_gene': 'GC09M083455', 'score': 0.21}]
chr9 GH09I083620 83620773 83626063 2.66 [{'connected_gene': 'IDNK', 'score': 562.26}, {'connected_gene': 'LOC105376114', 'score': 27.05}, {'connected_gene': 'KIF27', 'score': 22.06}, {'connected_gene': 'UBQLN1', 'score': 5.9}, {'connected_gene': 'GKAP1', 'score': 1.43}, {'connected_gene': 'GC09M083666', 'score': 0.21}]
chr9 GH09I083665 83665318 83666514 0.2 [{'connected_gene': 'LOC105376114', 'score': 39.38}, {'connected_gene': 'IDNK', 'score': 17.26}, {'connected_gene': 'UBQLN1', 'score': 11.68}, {'connected_gene': 'GC09M083666', 'score': 0.37}]
chr9 GH09I083699 83699401 83700000 0.2 [{'connected_gene': 'LOC105376114', 'score': 29.21}, {'connected_gene': 'IDNK', 'score': 11.13}, {'connected_gene': 'UBQLN1', 'score': 0.44}, {'connected_gene': 'GC09M083666', 'score': 0.39}]
chr9 GH09I083633 83633221 83634311 0.38 [{'connected_gene': 'LOC105376114', 'score': 27.48}, {'connected_gene': 'IDNK', 'score': 6.11}, {'connected_gene': 'UBQLN1', 'score': 5.12}, {'connected_gene': 'GC09M083666', 'score': 0.23}]
chr9 GH09I083705 83705512 83709453 2.29 [{'connected_gene': 'LOC105376114', 'score': 582.31}, {'connected_gene': 'UBQLN1', 'score': 550.77}, {'connected_gene': 'HNRNPK', 'score': 20.14}, {'connected_gene': 'KIF27', 'score': 12.64}, {'connected_gene': 'IDNK', 'score': 10.51}, {'connected_gene': 'GC09M083666', 'score': 0.34}]
chr9 GH09I083701 83701321 83702515 0.74 [{'connected_gene': 'LOC105376114', 'score': 27.91}, {'connected_gene': 'UBQLN1', 'score': 0.44}, {'connected_gene': 'GC09M083666', 'score': 0.37}]
chr9 GH09I083641 83641306 83642062 0.2 [{'connected_gene': 'LOC105376114', 'score': 12.77}, {'connected_gene': 'LOC105376116', 'score': 9.27}, {'connected_gene': 'IDNK', 'score': 5.87}, {'connected_gene': 'UBQLN1', 'score': 5.13}, {'connected_gene': 'GC09M083666', 'score': 0.26}]